Before progressing from "exomes" to "genomes"… don't forget splicing variants
Shaikh, Samiha S, Nahorski, Michael S, Rai, Harjeet, Woods, C Geoffrey
Published in European journal of human genetics : EJHG (01.11.2018)
Published in European journal of human genetics : EJHG (01.11.2018)
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Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1
Richards, Allan J, McNinch, Annie, Martin, Howard, Oakhill, Kim, Rai, Harjeet, Waller, Sarah, Treacy, Becky, Whittaker, Joanne, Meredith, Sarah, Poulson, Arabella, Snead, Martin P
Published in Human mutation (01.06.2010)
Published in Human mutation (01.06.2010)
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Insertion/deletion polymorphism in the angiotensin-converting enzyme gene and risk of and prognosis after myocardial infarction
Samani, Nilesh J., O'Toole, Laurence, Martin, Daniel, Rai, Harjeet, Fletcher, Sue, Lodwick, David, Thompson, John R., Morice, Alyn H., Channer, Kevin, Woods, Kent L.
Published in Journal of the American College of Cardiology (01.08.1996)
Published in Journal of the American College of Cardiology (01.08.1996)
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Journal Article
Somatic mosaicism of a novel IKBKG mutation in a male patient with incontinentia pigmenti
Hull, Sarah, Arno, Gavin, Thomson, Penelope, Mutch, Stacey, Webster, Andrew R, Rai, Harjeet, Hill, Virginia, Moore, Anthony T
Published in American journal of medical genetics. Part A (01.07.2015)
Published in American journal of medical genetics. Part A (01.07.2015)
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Journal Article
High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1
Richards, Allan J., Laidlaw, Maureen, Whittaker, Joanne, Treacy, Becky, Rai, Harjeet, Bearcroft, Philip, Baguley, David M., Poulson, Arabella, Ang, Alan, Scott, John D., Snead, Martin P.
Published in Human mutation (01.07.2006)
Published in Human mutation (01.07.2006)
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Journal Article
High efficiency of mutation detection in type 1 Stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1
Richards, Allan J., Laidlaw, Maureen, Whittaker, Joanne, Treacy, Becky, Rai, Harjeet, Bearcroft, Philip, Baguley, David M., Poulson, Arabella, Ang, Alan, Scott, John D., Snead, Martin P.
Published in Human mutation (01.11.2006)
Published in Human mutation (01.11.2006)
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Journal Article